Genetic analysis of a Chinese patient with congenital disorders of glycosylation-If

VernacularTitle:一例先天性糖基化障碍If型患儿的遗传学分析
Author: Hua ZHANG ¹ ; Fuqing ZHANG ; Min LIU ; Huafeng GUO
Author Information

1. 郑州市妇幼保健院生殖遗传科，郑州　450012
Keywords: Congenital disorders of glycosylation; Whole exome sequencing; MPDU1 gene; Genotype-phenotype correlation
From: Chinese Journal of Medical Genetics 2022;39(7):731-734
CountryChina
Language:Chinese
Abstract: Objective:To explore the genetic basis for a Chinese patient with congenital disorders of glycosylation-If (CDG-If).Methods:Whole exome sequencing (WES) was carried out for the patient.Results:The patient, a 5-year-old girl, has featured severe mental retardation. She had learned to walk at 4 years old and was only able to make sounds like "ma ma" occasionally. She was found to harbor compound heterozygous variants of the MPDU1 gene, namely c. 389G>A and c. 470T>C, both of which were unreported previously. Conclusion:Above finding has enriched the mutational spectrum of CDG-If among the Chinese population, with c. 218G>A being the commonest mutation, along with a more severe phenotype.